Preserved umbilical cord facilitates antenatal diagnosis of spinal muscular atrophy.
Indian Pediatr
;
2003 May; 40(5): 415-8
Artigo
em Inglês
| IMSEAR
| ID: sea-10110
ABSTRACT
Spinal Muscular atrophy (SMA) Type I is a fatal autosomal recessive disease caused by homozygous deletion of telometric region of exon 7/8 of the SMN gene. Prenatal diagnosis is feasible and desirable by most families. We report on prenatal diagnosis of SMAI in a family where dried umbilical cord stump from the deceased affected baby was used to confirm the diagnosis. Prenatal diagnosis was provided in the subsequent pregnancy. We emphasize the need for storing DNA from individuals affected with suspected single gene disorders.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Diagnóstico Pré-Natal
/
Preservação de Tecido
/
Cordão Umbilical
/
Feminino
/
Humanos
/
Gravidez
/
Atrofias Musculares Espinais da Infância
/
Adulto
Tipo de estudo:
Estudo diagnóstico
Idioma:
Inglês
Revista:
Indian Pediatr
Ano de publicação:
2003
Tipo de documento:
Artigo
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